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@ARTICLE{Muhammad:299497,
      author       = {N. Muhammad and H. Naeemi and S. Arif and U. Hamann$^*$ and
                      M. U. Rashid},
      title        = {{A}nticipation effect in {P}akistani breast cancer families
                      with or without {BRCA}1/2 pathogenic variants.},
      journal      = {Cancer epidemiology},
      volume       = {96},
      issn         = {1877-7821},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier},
      reportid     = {DKFZ-2025-00456},
      pages        = {102782},
      year         = {2025},
      abstract     = {Genetic anticipation refers to the earlier onset of breast
                      cancer (BC) in successive generations, is underreported in
                      Asian populations. This study investigates the phenomenon in
                      Pakistani familial BC patients.The study analyzed 171
                      mother-daughter BC pairs, including BRCA1 (n = 52), BRCA2 (n
                      = 11) pathogenic variant (PV) carriers, and non-carriers (n
                      = 108). Additionally, 741 first-degree female relatives of
                      the mothers and daughters, affected (n = 96) or unaffected
                      (n = 645) with BC, were included. Ages at BC diagnosis in
                      mother-daughter pairs were compared using a paired t-test,
                      while differences in BC occurrence between daughters' and
                      mothers' generations were assessed using odds ratios
                      (ORs).Daughters were diagnosed with BC significantly earlier
                      than their mothers, with intergenerational age differences
                      of 14.3 years in BRCA1 (33.7 vs. 48.0; P < 0.0001), 11.5
                      years in BRCA2 (37.4 vs. 48.9; P < 0.0001) PV carriers, and
                      12.6 years in non-carriers (41.3 vs. 53.9; P < 0.0001). This
                      difference was independent of birth cohort effects and
                      ascertainment bias. While BC incidence was 20 $\%$ higher in
                      the mothers' generation compared to the daughters'
                      generation (42.7 $\%$ vs. 38.3 $\%;$ OR 1.20, 95 $\%$ CI
                      0.94 - 1.53; P = 0.135), the difference was not
                      statistically significant. Survival durations between
                      generations were also comparable (4.49 years vs. 3.94 years;
                      P = 0.465).This first study on anticipation effect in
                      Pakistani familial BC patients demonstrates significantly
                      earlier BC onset in daughters than in mothers, irrespective
                      of BRCA1/2 PV carrier status. These findings highlight the
                      need to refine BC screening guidelines for high-risk
                      Pakistani populations.},
      keywords     = {BRCA1/2 pathogenic variants (Other) / Breast cancer (Other)
                      / Genetic anticipation (Other) / Mother-daughter pairs
                      (Other) / Pakistan (Other)},
      cin          = {B072},
      ddc          = {610},
      cid          = {I:(DE-He78)B072-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40015231},
      doi          = {10.1016/j.canep.2025.102782},
      url          = {https://inrepo02.dkfz.de/record/299497},
}